Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease
- Title
- Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease
- Author
- 김희태
- Keywords
- Early-onset Parkinson's disease; Young-onset Parkinson's disease; Age of onset; Genetic; PARK
- Issue Date
- 2019-03
- Publisher
- ELSEVIER SCIENCE INC
- Citation
- NEUROBIOLOGY OF AGING, v. 75, 224.e9
- Abstract
- Early-onset Parkinson's disease (EOPD) can be linked to different genetic backgrounds depending on the disease characteristics. In Korean patients with EOPD, however, only 5 PARK genes have been tested. We recruited 70 patients with EOPD from 4 hospitals in Korea, and 12 PARK genes were screened via multigene panel sequencing. Large insertions or deletions were confirmed by multiplex ligation-dependent probe amplification. We found 20 rare variants (2 in SNCA, 2 in PRKN, 6 in LRRK2, 3 in PINK1, 1 in DJ1, 4 in FBX07, 1 in HTRA2, and 1 in EIG4G1) in 20 subjects regardless of heterogeneity. Two pathogenic variants (SNCA in 2 subjects and DJ1 in one) were from 3 subjects, and 7 likely pathogenic variants (SNCA, LRRK2, FBXO7, and 2 in PINK1 and PRKN) from 7. Akinetic-rigid subtype and dystonia were more common in patients with EOPD with rare variants than in those without rare variants. Multigene panel tests can be effective at identifying genetic variants in patients with EOPD. In addition, we suggest there are different genetic backgrounds in patients with EOPD. (C) 2018 Elsevier Inc. All rights reserved.
- URI
- https://www.sciencedirect.com/science/article/pii/S0197458018303944?via%3Dihubhttps://repository.hanyang.ac.kr/handle/20.500.11754/110236
- ISSN
- 0197-4580; 1558-1497
- DOI
- 10.1016/j.neurobiolaging.2018.10.030
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
- Files in This Item:
There are no files associated with this item.
- Export
- RIS (EndNote)
- XLS (Excel)
- XML